ClinGen Allele Registry
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Canonical Allele Identifier:
PA915962579
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
133195
ClinVar RCV Id:
RCV000119697
RCV001216014
RCV001197604
RCV001802868
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Asp2431Tyr
CA024744
NM_001042723.2:c.7291G>T